Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAM21P1	145241	broad.mit.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958	by1000genomes	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1																						AGAGCTTCTTAACCCTCATAT	0.502000													3	70					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94927146	94927146	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr5:94927146A>G	ENST00000380009.4	+	6	1118	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	305						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTCAGAAAACTATTGT	0.368000													9	74					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468000													28	30					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095078	167095078	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:167095078T>C	ENST00000361200.2	+	6	876	c.710T>C	c.(709-711)gTc>gCc	p.V237A	DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	237	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCTGGTGGTCGCCTACCTG	0.527000													4	26					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652511	152652511	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:152652511G>A	ENST00000367255.5	-	78	13910	c.13309C>T	c.(13309-13311)Ctc>Ttc	p.L4437F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4437					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTCACTGAGACAATTCACG	0.493000										HNSCC(10;0.0054)			17	34					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453000													31	44					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													9	27					0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2747985	2747985	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:2747985G>A	ENST00000301738.4	+	3	514	c.440G>A	c.(439-441)aGc>aAc	p.S147N	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	147					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGACAGCAAAACATCG	0.438000													3	49					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65272951	65272951	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:65272951C>A	ENST00000294428.3	+	9	1552	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	492						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATTCTTTCCAAATCAGCA	0.463000													3	18					2.56e-06	2.62244e-06	1	1	0
ZXDB	158586	broad.mit.edu	37	X	57618946	57618946	+	Silent	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:57618946G>A	ENST00000374888.1	+	1	678	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ctccggccccgatctccgccc	0.741000													4	6					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	157					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274268	103274268	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:103274268T>C	ENST00000233969.2	+	2	677	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	179						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGGACACTTTGGAATTCCAT	0.517000													6	201					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837981	79837981	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr12:79837981A>G	ENST00000261205.4	+	10	1714	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000552744.1_Missense_Mutation_p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	353	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTTTGAACAAATCCAGGTAAT	0.358000													51	74					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19458135	19458135	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:19458135C>T	ENST00000262815.8	+	13	1307	c.1268C>T	c.(1267-1269)gCg>gTg	p.A423V	MAU2_ENST00000392313.6_Missense_Mutation_p.A423V			Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	423					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ACCAACCTGGCGAGTGTGTAT	0.537000													17	33					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	54					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	12					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													6	28					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005263	1005263	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:1005263C>T	ENST00000234389.3	+	3	1782	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	588					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTGCACCTCACCGCGCTCTTC	0.662000													22	25					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668160	71668160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:71668160C>A	ENST00000268485.3	+	3	704	c.660C>A	c.(658-660)taC>taA	p.Y220*	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	220	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGTGTCTTACAGTTCCACAG	0.532000													43	55					7.05121e-23	7.40377e-23	1	1	0
TFAP2C	7022	broad.mit.edu	37	20	55211767	55211767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr20:55211767C>T	ENST00000201031.2	+	6	1267	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCTTGGAGGACGAAATGAGAT	0.443000													25	32					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687000													18	55					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								21	32					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45517620	45517620	+	Missense_Mutation	SNP	G	G	A	rs115794259	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr13:45517620G>A	ENST00000379161.4	-	9	1374	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	443					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCGAATAACGTTTGATAGTT	0.333000													25	80					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	54					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107288369	107288369	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:107288369C>T	ENST00000415430.3	+	1	170	c.9C>T	c.(7-9)ttC>ttT	p.F3F	VSIG1_ENST00000217957.5_Silent_p.F3F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	3						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAATGGTGTTCGCATTTTGGA	0.448000													3	13					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151129236	151129236	+	Silent	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr3:151129236G>A	ENST00000474524.1	+	39	6014	c.5976G>A	c.(5974-5976)ccG>ccA	p.P1992P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1992	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCAGCCGAGTGGCTATG	0.542000													29	54					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627000			"""Mis, F, S"""		oligodendroglioma								32	11					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													9	29					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25497832	25497832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:25497832C>T	ENST00000264709.3	-	6	954	c.617G>A	c.(616-618)tGg>tAg	p.W206*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	206	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGCCAGCCACTCGTCCCG	0.657000			"""Mis, F, N, S"""		AML								16	13					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323094	61323094	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr18:61323094C>T	ENST00000283752.5	-	8	1113	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	324					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAGATAGCACGAGACCGCGG	0.547000													33	35					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	11					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029665	219029665	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:219029665C>T	ENST00000295683.2	-	2	390	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	90					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGGGCAAGGTCAGGGCAAAGA	0.557000													4	73					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:104120221G>A	ENST00000361355.4	+	10	1827	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	404					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATCGATGGCGCCAAATAAGG	0.343000													4	111					0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73188272	73188272	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:73188272C>T	ENST00000410065.1	-	11	749	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR			Q8TD22	SFXN5_HUMAN	sideroflexin 5	0					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTGACATTTGCGGGAAGAGGC	0.637000													3	14					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057967	27057971	+	Frame_Shift_Del	DEL	CCTTA	CCTTA	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:27057967_27057971delCCTTA	ENST00000324856.7	+	3	2046_2050	c.1675_1679delCCTTA	c.(1675-1680)ccttacfs	p.PY559fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	559					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCTCAGTCTCCTTACCAGCAGCAG	0.634			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								95	51	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55253414	55253416	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:55253414_55253416delAGG	ENST00000337526.6	-	3	2062_2064	c.1819_1821delCCT	c.(1819-1821)cctdel	p.P607del	RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	607					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAACTGGTGAAGGAGTAGCTTCT	0.443													33	45	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													5	10	---	---	---	---					
NUDT18	79873	broad.mit.edu	37	8	21965771	21965771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr8:21965771delG	ENST00000309188.6	-	4	367	c.249delC	c.(247-249)accfs	p.T83fs	NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	83	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CCTCCACGATGGTCTCCCCTG	0.677													2	4	---	---	---	---					
PTPRD	5789	broad.mit.edu	37	9	8518239	8518242	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr9:8518239_8518242delACTT	ENST00000381196.4	-	18	1692_1695	c.1149_1152delAAGT	c.(1147-1152)ctaagtfs	p.LS383fs	PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	383	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCGAGTAGGGACTTAGTCCAGCGA	0.461										TSP Lung(15;0.13)			68	95	---	---	---	---					
ENTPD1	953	broad.mit.edu	37	10	97605324	97605325	+	Frame_Shift_Del	DEL	CT	CT	-	rs140773352		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr10:97605324_97605325delCT	ENST00000371203.5	+	5	957_958	c.370_371delCT	c.(370-372)ctcfs	p.L124fs	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	262					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATCAGGCACTCTGGCAGAAA	0.500													18	58	---	---	---	---					
PACS2	23241	broad.mit.edu	37	14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105818792_105818794delCTT	ENST00000447393.1	+	3	460_462	c.285_287delCTT	c.(283-288)accttc>acc	p.F96del	PACS2_ENST00000325438.8_In_Frame_Del_p.F96del|PACS2_ENST00000458164.2_In_Frame_Del_p.F96del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.F29del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	70	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	4	---	---	---	---					
